L124H (p.Leu124His) variant of KRT16 (Keratin, type I cytoskeletal 16)
L124H (p.Leu124His) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Palmoplantar keratoderma, nonepidermolytic, focal 1; Pachyonychia. The record also includes published literature and structural context.
L124H (p.Leu124His) variant details
- p.Leu124His
- rs58293603
- ClinGen CA217379
- ClinVar RCV000057032
- ClinVar RCV002504957
- Pathogenic/Likely pathogenic
- not provided; Palmoplantar keratoderma, nonepidermolytic, focal 1; Pachyonychia
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Palmoplantar keratoderma, nonepidermolytic, focal)
- EBI: Pathogenic (in PC1)
- UniProt: Pathogenic (in PC1)
- Structural context available
- Cited in: The genetic basis of pachyonychia congenita. (PMID 16250206)
- Cited in: Pachyonychia Congenita. (PMID 20301457)